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An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease.

Authors
Type
Published Article
Journal
European journal of pediatrics
Publication Date
Volume
156
Issue
9
Pages
713–715
Identifiers
PMID: 9296536
Source
Medline

Abstract

More attention should be paid to slight elevations of leucine levels in newborn mass screening. Urinary organic acid analysis should be performed in conspicuous cases.

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